Canonical Allele Identifier: CA515262971

Gene: SHANK3

Linked Data

• dbSNP Id: rs1249237809
• gnomAD v2: 22-51160027-G-A
• gnomAD v3: 22-50721599-G-A
• gnomAD v4: 22-50721599-G-A
• MyVariant Identifiers: chr22:g.51160027G>A (hg19) ; chr22:g.50721599G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721599G>A , CM000684.2:g.50721599G>A	GRCh38
NC_000022.10:g.51160027G>A , CM000684.1:g.51160027G>A	GRCh37
NC_000022.9:g.49506893G>A	NCBI36
NG_008607.2:g.52245G>A
NG_070230.1:g.57383G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3367G>A	ENSP00000489147.2:p.Ala1123Thr
ENST00000414786.7:n.3951G>A
ENST00000445220.7:c.2419G>A	ENSP00000489407.2:p.Ala807Thr
ENST00000664402.2:c.1909G>A	ENSP00000499475.1:p.Ala637Thr
ENST00000673971.2:c.*2365G>A	ENSP00000501192.1:n.*2365G>A
ENST00000445220.6:c.2419G>A	ENSP00000489407.2:p.Ala807Thr
ENST00000262795.6:c.3367G>A	ENSP00000489147.2:p.Ala1123Thr
ENST00000664402.1:c.1909G>A	ENSP00000499475.1:p.Ala637Thr
ENST00000673971.1:c.*2365G>A	ENSP00000501192.1:n.*2365G>A
ENST00000262795.5:c.3763G>A	ENSP00000489147.1:p.Ala1255Thr
ENST00000414786.6:n.3951G>A
ENST00000445220.5:c.3745G>A	ENSP00000489407.1:p.Ala1249Thr